TRIM32 and autosomal recessive limb-girdle muscular dystrophy type 2H: Mutations in the TRIM32 gene, which encodes a protein consisting of 653 amino acids residues, are often associated with STM and the limb-girdle muscular dystrophy R8 (LGMDR8, previously known as LGMD2H; MIM 254110) [1], two conditions that present as different severities of the same disease [2]; Bardet Biedl syndrome presents a different phenotype due to one variant (P130S) in the B-box region, independently from muscular phenotypes [3].